Canonical Allele Identifier: CA2591285238

Gene: ATAD3A

Linked Data

• gnomAD v3: 1-1512444-CCAAGGCGGCGCGCGAG-C
• gnomAD v4: 1-1512444-CCAAGGCGGCGCGCGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1512446_1512461del , CM000663.2:g.1512446_1512461del	GRCh38
NC_000001.10:g.1447826_1447841del , CM000663.1:g.1447826_1447841del	GRCh37
NC_000001.9:g.1437689_1437704del	NCBI36
NG_053035.1:g.5304_5319del

Transcript Alleles

HGVS	Amino-acid change
ENST00000339113.9:c.62_77del
ENST00000378756.8:c.178_193del MANE Select	ENSP00000368031.3:p.Lys60TrpfsTer11
ENST00000672388.1:n.282_297del
ENST00000378755.9:c.178_193del	ENSP00000368030.5:p.Lys60TrpfsTer11
ENST00000378756.7:c.178_193del	ENSP00000368031.3:p.Lys60TrpfsTer11
NM_001170535.1:c.178_193del	NP_001164006.1:p.Lys60TrpfsTer11
NM_018188.3:c.178_193del	NP_060658.3:p.Lys60TrpfsTer11
NM_001170535.2:c.178_193del	NP_001164006.1:p.Lys60TrpfsTer11
NM_018188.4:c.178_193del	NP_060658.3:p.Lys60TrpfsTer11
XM_024448098.1:c.178_193del	XP_024303866.1:p.Lys60TrpfsTer11
XR_001737282.1:n.304_319del
XR_002956997.1:n.304_319del
NM_001170535.3:c.178_193del MANE Select	NP_001164006.1:p.Lys60TrpfsTer11
NM_018188.5:c.178_193del	NP_060658.3:p.Lys60TrpfsTer11